Search Results - "genetic testing"

Phenotype and genotype features of Vietnamese children with pachyonychia congenita by Ha Thi Chu, Tung Anh Dinh Duong, Doanh Huu Le, Thieu Van Le, Binh Bui Nguyen, Chuc Van Dang, Quang Van Vu

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Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study by Nodira M. Normuradova, Odil A. Khujakulov, Mahliyo Sh. Ergasheva, Eshdavlat R. Ollanazarov, Bekhruz B. Majidov

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"It's Got to Be on This Page": Age and Cognitive Style in a Study of Online Health Information Seeking by Agree, Emily M, King, Abby C, Castro, Cynthia M, Wiley, Adrienne, Borzekowski, Dina LG

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Practical tips to using formalin-fixed paraffin-embedded tissue archives for molecular diagnostics in a South African setting by Barbara S. van Deventer, Lorraine du Toit-Prinsloo, Chantal van Niekerk

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Comparison of pharmacogenomic information for drug approvals provided by the national regulatory agencies in Korea, Europe, Japan, and the United States by Mijin Lee, Ji Min Han, Jaeyeon Lee, Ju Young Oh, Jung Sun Kim, Hye Sun Gwak, Kyung Hee Choi

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A novel SRY nonsense mutation in a case of Swyer syndrome by Clara Machado, Angela Pereira, José Matos Cruz, Alexandra Cadilhe, Albina Silva, Almerinda Pereira

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Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction by Barrett J. Burger, Shannon Rose, Shannon Rose, Sirish C. Bennuri, Sirish C. Bennuri, Pritmohinder S. Gill, Marie L. Tippett, Marie L. Tippett, Leanna Delhey, Leanna Delhey, Stepan Melnyk, Stepan Melnyk, Richard E. Frye, Richard E. Frye

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Prognostic value of blastocyst grade after frozen euploid embryo transfer in patients with recurrent pregnancy loss by Gayathree Murugappan, M.D, Julia G. Kim, M.D, Jonathan D. Kort, M.D, Brent M. Hanson, M.D, Shelby A. Neal, M.D, Ashley W. Tiegs, M.D, Emily K. Osman, M.D, Richard T. Scott, M.D, Ruth B. Lathi, M.D

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From chronic cholestasis to liver transplantation by Irina Dijmarescu, Ruxandra Darie, Ana-Maria Bradeanu, Mirela Luminita Pavelescu

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The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function by Laura B. Jones, Colin H. Peters, Richard E. Rosch, Richard E. Rosch, Maxine Owers, Elaine Hughes, Elaine Hughes, Deb K. Pal, Deb K. Pal, Peter C. Ruben

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A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases by Lin Zhou, Ying Peng, Jing Chen, Hui Xi, Si Wang, Gehua Kang, Wanglan Tang, Wanqin Xie

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Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis by Angela Pepe, Angelo Colucci, Martina Carucci, Lucia Nazzaro, Cristina Bucci, Giusy Ranucci, Angelo Di Giorgio, Pietro Vajro, Claudia Mandato

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A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant by Tang Q, Gong D, Ye XM, Xu JR, Yang YC, Yan LJ, Zou L, Wen XL

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The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review by Johanna Eichinger, Bernice S. Elger, Insa Koné, Isabel Filges, David Shaw, Bettina Zimmermann, Stuart McLennan

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Liddle’s syndrome mechanisms, diagnosis and management by Enslow BT, Stockand JD, Berman JM

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Prenatal diagnosis and pregnancy outcomes of 149 fetuses with tetralogy of Fallot accompanied by concomitant cardiac and extracardiac anomalies by Gökhan Bolluk, Özge Özdemir, Helen Bornaun

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Extraovarian sex cord tumor with annular tubules discovered arising from a leiomyoma by William T. Jaegle, Erin A. Keyser, Lynn Messersmith, Robert O. Brady, Caela Miller

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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies by Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante

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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report by Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen

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HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report by Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

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